Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
22665138
TITLE
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.
ABSTRACT
Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest P value 3.87 × 10(-12) for SNP rs634990 in Caucasians, and 9.65 × 10(-4) for rs8032019 in Asians. The overall meta-analysis provided P value 9.20 × 10(-23) for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16, P < 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49, P < 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (P value 5.81 × 10(-2) for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide.
DATE PUBLISHED
2012 Sep
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2012/03/20
accepted 2012/04/27
aheadofprint 2012/06/05
entrez 2012/06/06 06:00
pubmed 2012/06/06 06:00
medline 2012/10/16 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Verhoeven VJ Verhoeven Virginie J M VJ Department of Ophthalmology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.
Hysi PG Hysi Pirro G PG
Saw SM Saw Seang-Mei SM
Vitart V Vitart Veronique V
Mirshahi A Mirshahi Alireza A
Guggenheim JA Guggenheim Jeremy A JA
Cotch MF Cotch Mary Frances MF
Yamashiro K Yamashiro Kenji K
Baird PN Baird Paul N PN
Mackey DA Mackey David A DA
Wojciechowski R Wojciechowski Robert R
Ikram MK Ikram M Kamran MK
Hewitt AW Hewitt Alex W AW
Duggal P Duggal Priya P
Janmahasatian S Janmahasatian Sarayut S
Khor CC Khor Chiea-Chuen CC
Fan Q Fan Qiao Q
Zhou X Zhou Xin X
Young TL Young Terri L TL
Tai ES Tai E-Shyong ES
Goh LK Goh Liang-Kee LK
Li YJ Li Yi-Ju YJ
Aung T Aung Tin T
Vithana E Vithana Eranga E
Teo YY Teo Yik-Ying YY
Tay W Tay Wanting W
Sim X Sim Xueling X
Rudan I Rudan Igor I
Hayward C Hayward Caroline C
Wright AF Wright Alan F AF
Polasek O Polasek Ozren O
Campbell H Campbell Harry H
Wilson JF Wilson James F JF
Fleck BW Fleck Brian W BW
Nakata I Nakata Isao I
Yoshimura N Yoshimura Nagahisa N
Yamada R Yamada Ryo R
Matsuda F Matsuda Fumihiko F
Ohno-Matsui K Ohno-Matsui Kyoko K
Nag A Nag Abhishek A
McMahon G McMahon George G
St Pourcain B St Pourcain Beate B
Lu Y Lu Yi Y
Rahi JS Rahi Jugnoo S JS
Cumberland PM Cumberland Phillippa M PM
Bhattacharya S Bhattacharya Shomi S
Simpson CL Simpson Claire L CL
Atwood LD Atwood Larry D LD
Li X Li Xiaohui X
Raffel LJ Raffel Leslie J LJ
Murgia F Murgia Federico F
Portas L Portas Laura L
Despriet DD Despriet Dominiek D G DD
van Koolwijk LM van Koolwijk Leonieke M E LM
Wolfram C Wolfram Christian C
Lackner KJ Lackner Karl J KJ
Tönjes A Tönjes Anke A
Mägi R Mägi Reedik R
Lehtimäki T Lehtimäki Terho T
Kähönen M Kähönen Mika M
Esko T Esko Tõnu T
Metspalu A Metspalu Andres A
Rantanen T Rantanen Taina T
Pärssinen O Pärssinen Olavi O
Klein BE Klein Barbara E BE
Meitinger T Meitinger Thomas T
Spector TD Spector Timothy D TD
Oostra BA Oostra Ben A BA
Smith AV Smith Albert V AV
de Jong PT de Jong Paulus T V M PT
Hofman A Hofman Albert A
Amin N Amin Najaf N
Karssen LC Karssen Lennart C LC
Rivadeneira F Rivadeneira Fernando F
Vingerling JR Vingerling Johannes R JR
Eiríksdóttir G Eiríksdóttir Guðný G
Gudnason V Gudnason Vilmundur V
Döring A Döring Angela A
Bettecken T Bettecken Thomas T
Uitterlinden AG Uitterlinden André G AG
Williams C Williams Cathy C
Zeller T Zeller Tanja T
Castagné R Castagné Raphaële R
Oexle K Oexle Konrad K
van Duijn CM van Duijn Cornelia M CM
Iyengar SK Iyengar Sudha K SK
Mitchell P Mitchell Paul P
Wang JJ Wang Jie Jin JJ
Höhn R Höhn René R
Pfeiffer N Pfeiffer Norbert N
Bailey-Wilson JE Bailey-Wilson Joan E JE
Stambolian D Stambolian Dwight D
Wong TY Wong Tien-Yin TY
Hammond CJ Hammond Christopher J CJ
Klaver CC Klaver Caroline C W CC
INVESTIGATORS
JOURNAL
VOLUME: 131
ISSUE: 9
TITLE: Human genetics
ISOABBREVIATION: Hum. Genet.
YEAR: 2012
MONTH: Sep
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1432-1203
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Genet
COUNTRY: Germany
ISSNLINKING: 0340-6717
NLMUNIQUEID: 7613873
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Meta-Analysis
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
076467 Wellcome Trust United Kingdom
083478 Wellcome Trust United Kingdom
092731 Wellcome Trust United Kingdom
1R01EY018246 NEI NIH HHS United States
4882 Medical Research Council United Kingdom
CDF-2009-02-35 Department of Health United Kingdom
CZB/4/438 Chief Scientist Office United Kingdom
CZB/4/710 Chief Scientist Office United Kingdom
G9815508 Medical Research Council United Kingdom
K08 EY022943 NEI NIH HHS United States
MC_PC_15018 Medical Research Council United Kingdom
MC_PC_U127561128 Medical Research Council United Kingdom
MC_U127561128 Medical Research Council United Kingdom
N01AG12100 NIA NIH HHS United States
N01EY22112 NEI NIH HHS United States
N01EY92109 NEI NIH HHS United States
N01HC25195 NHLBI NIH HHS United States
N01HC95159 NHLBI NIH HHS United States
N01HC95169 NHLBI NIH HHS United States
N02HL64278 NHLBI NIH HHS United States
R01 EY014685 NEI NIH HHS United States
R01 EY020483 NEI NIH HHS United States
R01 EY020483 NEI NIH HHS United States
R01 EY023196 NEI NIH HHS United States
R01EY01824601 NEI NIH HHS United States
R01HL071205 NHLBI NIH HHS United States
RR-024156 NCRR NIH HHS United States
RR00425 NCRR NIH HHS United States
UL1 RR033176 NCRR NIH HHS United States
UL1 TR000124 NCATS NIH HHS United States
UL1RR033176 NCRR NIH HHS United States
Z01 EY000401-06 Intramural NIH HHS United States
Z01 EY000401-07 Intramural NIH HHS United States
Z01 EY000405-05 Intramural NIH HHS United States
Z01 EY000405-06 Intramural NIH HHS United States
Z99 EY999999 Intramural NIH HHS United States
ZI-AEY000403 PHS HHS United States
ZI-ZIAEY000401 PHS HHS United States
ZIA EY000401-08 Intramural NIH HHS United States
ZIA EY000401-09 Intramural NIH HHS United States
ZIA EY000401-10 Intramural NIH HHS United States
ZIA EY000403-10 Intramural NIH HHS United States
ZIAAG007380 PHS HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Alleles
Chromosomes, Human, Pair 15
Humans
Myopia genetics
Phenotype genetics
Polymorphism, Single Nucleotide genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
OTHERID SOURCE
PMC3418496 NLM
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